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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Beck, Christine R; Carvalho, Claudia M B; Banser, Linda; Gambin, Tomasz; Stubbolo, Danielle; Yuan, Bo; Sperle, Karen; McCahan, Suzanne M; Henneke, Marco; Seeman, Pavel; Garbern, James Y; Hobson, Grace M; Lupski, James R.
Afiliación
  • Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Carvalho CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Centro de Pesquisas Rene Rachou- FIOCRUZ, Belo Horizonte, Minas Gerais, Brazil.
  • Banser L; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Stubbolo D; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America.
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Sperle K; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America.
  • McCahan SM; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America; Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
  • Henneke M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.
  • Seeman P; Department of Pediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
  • Garbern JY; University of Rochester Medical Center, Rochester, New York, United States of America.
  • Hobson GM; Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America; Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America; University of Delaware, Department of Biological Sciences, Newark, Delawa
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America; Texas Children's Hospital, Houston, Texas, United State
PLoS Genet ; 11(3): e1005050, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25749076
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína Proteolipídica de la Mielina / Duplicación de Gen / Enfermedad de Pelizaeus-Merzbacher Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína Proteolipídica de la Mielina / Duplicación de Gen / Enfermedad de Pelizaeus-Merzbacher Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos